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A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome.

ABSTRACT: A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome.

PROVIDER: PRJNA851842 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR19787536_1.fastq.gz	Fastqsanger.gz
	SRR19787536_2.fastq.gz	Fastqsanger.gz
	SRR19787537_1.fastq.gz	Fastqsanger.gz
	SRR19787537_2.fastq.gz	Fastqsanger.gz
	SRR19787538_1.fastq.gz	Fastqsanger.gz

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A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome.

Project description:TBX1 is a key regulator of pharyngeal apparatus (PhAp) development. Vitamin B12 (vB12) treatment partially rescues aortic arch patterning defects of Tbx1+/- embryos. Here, we show that it also improves cardiac outflow tract septation and branchiomeric muscle anomalies of Tbx1 hypomorphic mutants. At the molecular level, in vivo vB12 treatment enabled us to identify genes that were dysregulated by Tbx1 haploinsufficiency and rescued by treatment. We found that SNAI2, also known as SLUG, encoded by the rescued gene Snai2, identified a population of mesodermal cells that was partially overlapping with, but distinct from, ISL1+ and TBX1+ populations. In addition, SNAI2+ cells were mislocalized and had a greater tendency to aggregate in Tbx1+/- and Tbx1-/- embryos, and vB12 treatment restored cellular distribution. Adjacent neural crest-derived mesenchymal cells, which do not express TBX1, were also affected, showing enhanced segregation from cardiopharyngeal mesodermal cells. We propose that TBX1 regulates cell distribution in the core mesoderm and the arrangement of multiple lineages within the PhAp.

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A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome.

Project description:Evaluate the effect of the vB12 treatment on transcriptional profile of Tbx1 haploinsufficiency embryos we performed RNA-seq on whole E9.5 mouse embryos (21 somite stage) after treatment with vB12 (cyanocobalamin Sigma-Aldrich Prod. Number V2876) or vehicle (PBS) during pregnancy

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Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment

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The DiGeorge Syndrome gene TBX1 is required to specify the nkx2.5+ cardiopharyngeal lineage

Project description:Hemizygous microdeletions on chromosome 22q11.2 cause a broad spectrum of congenital cardiovascular and craniofacial anomalies known collectively as DiGeorge Syndrome (DGS) that appear to arise from reduced expression of TBX1, a gene in the typically deleted region. Although mice lacking tbx1 display similar, yet more severe, cardiovascular and craniofacial defects, the mechanisms underlying these devastating phenotypes remain incompletely understood. Here, we report that Tbx1 is required prior to pharyngeal arch development to specify the nkx2.5+ cardiopharyngeal cell lineage that gives rise to the cardiovascular and crainiofacial structures absent in tbx1 null zebrafish. Importantly, the role of Tbx1 during cardiopharyngeal lineage specification is conserved in mammals. Further, we learned that DVR1, the zebrafish homolog of mammalian GDF1/3, functions downstream of Tbx1 for pharyngeal progenitor specification. Together, these studies unveil a new paradigm potentially underlying the cardiovascular and craniofacial defects observed in the DGS population.

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